R31G (p.Arg31Gly) variant of HBB (Hemoglobin subunit beta)
R31G (p.Arg31Gly) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of beta Thalassemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- rs35684407
- ClinGen CA217115065
- ClinVar RCV001078278
- ClinVar RCV005232121
- Pathogenic/Likely pathogenic
- beta Thalassemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- ESM-1b 1.00
- AlphaMissense 0.87
- ClinVar: Pathogenic/Likely pathogenic (beta Thalassemia; not provided)
- EBI: Pathogenic (in Tacoma)
- UniProt: Pathogenic (in Tacoma)
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Beta-Thalassemia. (PMID 20301599)